ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1101C>T (p.Gly367=)

dbSNP: rs2145876802
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004595637 SCV005088257 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation The variant NM_001754.5(RUNX1):c.1101C>T (p.Gly367=) is a synonymous change. It is not present in any population databases (gnomAD v2.1.1 and v3.1.2) with at least 20x coverage for RUNX1 (PM2_supporting). Furthermore, the variant has a SpliceAI score of ≤ 0.20 (SpliceAI DG:0.11), indicating a low likelihood of affecting splicing. Evolutionary conservation prediction algorithms suggest that the site is not conserved (PhyloP score 1.12 < 2.0) or that the variant is the reference nucleotide in only one primate and/or three mammal species (BP7). Additionally, there is no previous report of this variant. In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting, BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001922922 SCV002183523 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-10-13 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.